Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ
about
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stabilityMutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expressionMitochondrial disease in childhood: nuclear encodedMitochondrial geneticsA novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome.A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.The genetics of Leigh syndrome and its implications for clinical practice and risk managementDifferential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.Deciphering the fine-structure of tribal admixture in the Bedouin population using genomic dataBiogenesis of the cytochrome bc(1) complex and role of assembly factors.A Set of miRNAs, Their Gene and Protein Targets and Stromal Genes Distinguish Early from Late Onset ER Positive Breast Cancer.Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.Pathogenic mutations of nuclear genes associated with mitochondrial disorders.The genetics and pathology of mitochondrial disease.Mitochondrial disorders caused by mutations in respiratory chain assembly factors.Mechanisms of mitochondrial diseases.Mitochondrial dysfunction in the pathophysiology of renal diseases.Nuclear gene mutations as the cause of mitochondrial complex III deficiencyLYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III DeficienciesThe Alterations in Mitochondrial DNA Copy Number and Nuclear-Encoded Mitochondrial Genes in Rat Brain Structures after Cocaine Self-Administration.SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.Complex III staining in blue native polyacrylamide gels.UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia.Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexes
P2860
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P2860
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ
description
2008 nî lūn-bûn
@nan
2008 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ
@ast
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ
@en
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ
@nl
type
label
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ
@ast
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ
@en
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ
@nl
prefLabel
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ
@ast
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ
@en
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ
@nl
P2093
P2860
P1476
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ
@en
P2093
Ahmad Nasasra
Ginat Narkis
Hagit Flusser
Hanah Shalev
Ortal Barel
Rivka Ofir
Zamir Shorer
P2860
P304
P356
10.1016/J.AJHG.2008.03.020
P407
P577
2008-04-24T00:00:00Z